Results 131 to 140 of about 496,844 (305)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Scoping Review

JPM - Journal of Perspectives in Management
Dysphonia significantly impacts communication and quality of life, and voice therapy is a common treatment. However, its effectiveness can be hindered by patient non-adherence. This project aims to review existing literature on factors influencing cooperation and adherence to voice therapy in dysphonia patients. A scoping review will be conducted using
Da Silva, Kelly, Soares, Maria Júlia Galindo, De Sousa Oliveira, Maria Helena, Almeida, Anna Alice   +3 more
  +4 more sources

Mixed Methods Research in LIS Literature: A Scoping Review [PDF]

, 2016
This poster presentation introduces the initial stages of a scoping review, mapping the existing mixed methods research (MMR) studies in the field of Library and Information Science (LIS) published between 2013-2015. While MMR has no universal definition,
Berman, Elizabeth A., Crist, Emily A
core   +1 more source

Memory Rehabilitation Strategies in Nonsurgical Temporal Lobe Epilepsy: A Review [PDF]

, 2017
open8siPeople with temporal lobe epilepsy (TLE) who have not undergone epilepsy surgery often complain of memory deficits. Cognitive re- habilitation is employed as a remedial intervention in clinical settings, but research is limited and findings ...
Alderighi, Marzia, Bosco, Anna, Del Felice, Alessandra, Grisafi, Davide, Martinato, Matteo, Masiero, Stefano, Sander, Josemir W., Thompson, Pamela J.   +7 more
core   +2 more sources

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

Measuring the burden of treatment for chronic disease: implications of a scoping review of the literature [PDF]

, 2017
Background: Although there has been growing research on the burden of treatment, the current state of evidence on measuring this concept is unknown.
Mair, Frances S., McMillan, Sara S., Salehi, Asiyeh, Sav, Adem   +3 more
core   +3 more sources

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

a scoping review

, 2023
The peri-implant ligament is formed from the interface of bone tissue, through the anchoring of proteins and the surface of the dental implant. In this sense, it is relevant to understand the extent to which this ligament is structured and biomimics the periodontal ligament functions.
Marvin do Nascimento, Bruno Martins de Souza, Aline Tany Posch   +2 more
openaire   +1 more source

VICTORIOUS: A Visual Analytics System for Scoping Review of Document Sets

Multimodal Technologies and Interaction
Scoping review is an iterative knowledge synthesis methodology concerned with broad questions about the nature of a research subject. The increasingly large number of published documents in scholarly domains poses challenges in conducting scoping reviews.
Amir Haghighati, Amir Reza Haghverdi, Kamran Sedig   +2 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source